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Items: 1 to 20 of 34

1.

Overexpression of SLC25A15 is involved in the proliferation of cutaneous melanoma and leads to poor prognosis.

Ji SM.

Med Sci (Paris). 2018 Oct;34 Focus issue F1:74-80. doi: 10.1051/medsci/201834f113. Epub 2018 Nov 7.

PMID:
30403179
2.

Structure/function relationships of the human mitochondrial ornithine/citrulline carrier by Cys site-directed mutagenesis. Relevance to mercury toxicity.

Giangregorio N, Tonazzi A, Console L, Galluccio M, Porcelli V, Indiveri C.

Int J Biol Macromol. 2018 Dec;120(Pt A):93-99. doi: 10.1016/j.ijbiomac.2018.08.069. Epub 2018 Aug 16.

PMID:
30121301
3.

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.

Camacho J, Rioseco-Camacho N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 May 31.

4.

Long-term follow-up of four patients affected by HHH syndrome.

Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE.

Clin Chim Acta. 2012 Jul 11;413(13-14):1151-5. doi: 10.1016/j.cca.2012.03.015. Epub 2012 Mar 23.

PMID:
22465082
5.

Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.

Wang JF, Chou KC.

PLoS One. 2012;7(1):e31048. doi: 10.1371/journal.pone.0031048. Epub 2012 Jan 26.

6.

Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan.

Sokoro AA, Lepage J, Antonishyn N, McDonald R, Rockman-Greenberg C, Irvine J, Lehotay DC.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S275-81. doi: 10.1007/s10545-010-9148-9. Epub 2010 Jun 24.

PMID:
20574716
7.

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM.

Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930.

PMID:
19242930
8.

Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.

Debray FG, Lambert M, Lemieux B, Soucy JF, Drouin R, Fenyves D, Dubé J, Maranda B, Laframboise R, Mitchell GA.

J Med Genet. 2008 Nov;45(11):759-64. doi: 10.1136/jmg.2008.059097.

9.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK.

J Neurol Sci. 2008 Jan 15;264(1-2):187-94. Epub 2007 Sep 7.

PMID:
17825324
10.

A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome.

Torisu H, Kira R, Kanazawa N, Takemoto M, Sanefuji M, Sakai Y, Tsujino S, Hara T.

Brain Dev. 2006 Jun;28(5):332-5. Epub 2006 Jan 10.

PMID:
16376511
11.

The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter.

Morizono H, Woolston JE, Colombini M, Tuchman M.

Mol Genet Metab. 2005 Dec;86(4):431-40. Epub 2005 Oct 26.

PMID:
16256388
12.
13.

A novel mutation, P126R, in a Japanese patient with HHH syndrome.

Miyamoto T, Kanazawa N, Hayakawa C, Tsujino S.

Pediatr Neurol. 2002 Jan;26(1):65-7.

PMID:
11814739
14.

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

Salvi S, Dionisi-Vici C, Bertini E, Verardo M, Santorelli FM.

Hum Mutat. 2001 Nov;18(5):460.

PMID:
11668643
15.

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Salvi S, Santorelli FM, Bertini E, Boldrini R, Meli C, Donati A, Burlina AB, Rizzo C, Di Capua M, Fariello G, Dionisi-Vici C.

Neurology. 2001 Sep 11;57(5):911-4.

PMID:
11552031
16.

Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.

Miyamoto T, Kanazawa N, Kato S, Kawakami M, Inoue Y, Kuhara T, Inoue T, Takeshita K, Tsujino S.

J Hum Genet. 2001;46(5):260-2.

PMID:
11355015
17.

Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.

Monné M, Miniero DV, Daddabbo L, Robinson AJ, Kunji ER, Palmieri F.

J Biol Chem. 2012 Mar 9;287(11):7925-34. doi: 10.1074/jbc.M111.324855. Epub 2012 Jan 19.

18.

Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

Tsujino S, Kanazawa N, Ohashi T, Eto Y, Saito T, Kira J, Yamada T.

Ann Neurol. 2000 May;47(5):625-31.

PMID:
10805333
19.

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D.

Nat Genet. 1999 Jun;22(2):151-8.

PMID:
10369256

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